Varaico: Literature-Extracted Genetic Variants

Gene:TRMT10C
Variant:p.R181Q
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TRMT10C

NM_017819.4:p.R181Q

Associated Papers

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD et al.

American Journal of Human Genetics, 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Green RC et al.

American Journal of Human Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."